G60A (p.Gly60Ala) variant of AQP2 (Aquaporin-2)
G60A (p.Gly60Ala) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G60A (p.Gly60Ala) variant details
- p.Gly60Ala
- gnomAD 12-49951009-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.89
- AlphaMissense 0.14
- MetaLR 0.72
- MetaSVM -0.11
- CADD 23.10
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available